Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene

A. O. Borovikov; Боровиков А. О.; I. V. Sharkova; Шаркова И. В.; O. P. Ryzhkova; Рыжкова О. П.; A. L. Chukhrova; Чухрова А. Л.; O. A. Schagina; Щагина О. А.; T. V. Markova; Маркова Т. В.; E. L. Dadali; Дадали Е. Л.

doi:10.17650/2222-8721-2019-9-1-83-91

Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene

Authors: Borovikov A.O.¹, Sharkova I.V.¹, Ryzhkova O.P.¹, Chukhrova A.L.¹, Schagina O.A.¹, Markova T.V.¹, Dadali E.L.¹^,2
Affiliations:
1. Research Center of Medical Genetics
2. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Issue: Vol 9, No 1 (2019)
Pages: 83-91
Section: CLINICAL DISCUSSION
Published: 24.04.2019
URL: https://nmb.abvpress.ru/jour/article/view/317
DOI: https://doi.org/10.17650/2222-8721-2019-9-1-83-91
ID: 317

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Abstract

A description of the clinical and genetic characteristics of the syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation of 2 patients from Russia is presented. As a result of full-exome DNA sequencing, 2 heterozygous missense mutations c 4355T C and c.3541C G were found in the NALCN gene, leading to amino acid substitutions at the functionally important center of the protein molecule. The effect of identified mutations in the NALCN gene on the function of its protein and approaches to the differential diagnosis of congenital contracture syndrome of the extremities and face in combination with muscular hypotonia and psychomotor retardation with monogenic variants of distal arthrogryposis with autosomal dominant type of inheritance are discussed.

Keywords

syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation, autosomal dominant type of inheritance, NALCN gene

About the authors

A. O. Borovikov

Research Center of Medical Genetics

Author for correspondence.
Email: borovikov33@gmail.com
ORCID iD: 0000-0001-5871-8005

1 Moskvorech’e St., Moscow 115478

Russian Federation

1 Ostrovityanova St., Moscow 117997

Russian Federation

References

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